del(1)(p22.2p31.1)
interstitial 1p22.2-p31.1 deletion
Synopsis
short stature
facial dysmorphism
facial asymmetry
scoliosis
severe psychomotor delay
epibulbar dermoid cyst
References
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D’Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A. 2008 Jul 15. PMID: 18629884